X-linked myopathy with excessive autophagy

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X-linked myopathy with excessive autophagy

ORPHA:25980Disease

Also called XMEA

What it is

A rare X-linked myopathy characterized by childhood or adult-onset of slowly progressive muscle weakness and unique histopathological findings (autophagic vacuoles with sarcolemmal features).

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adolescent, Adult, Childhood, Infancy, Neonatal
Inheritance
X-linked recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

VMA21Disease-causing germline mutation(s)

ICD-10 codes

G71.8filed under a broader ICD-10 category — shared with 18 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 3892MESH C564093MONDO 0010684OMIM 310440UMLS C1839615

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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